Incidental Mutation 'IGL01300:Mynn'
ID 75244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mynn
Ensembl Gene ENSMUSG00000037730
Gene Name myoneurin
Synonyms 2810011C24Rik, SBBIZ1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # IGL01300
Quality Score
Status
Chromosome 3
Chromosomal Location 30656214-30674022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30667755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 485 (N485S)
Ref Sequence ENSEMBL: ENSMUSP00000041034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]
AlphaFold Q99MD8
Predicted Effect probably damaging
Transcript: ENSMUST00000047502
AA Change: N485S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: N485S

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192715
AA Change: N513S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: N513S

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193736
Predicted Effect probably benign
Transcript: ENSMUST00000195396
SMART Domains Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195751
SMART Domains Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 33,821,700 (GRCm39) D300G probably benign Het
Cacna1g T C 11: 94,324,738 (GRCm39) H1161R probably benign Het
Col14a1 G A 15: 55,331,372 (GRCm39) R1471Q unknown Het
Gm14496 A T 2: 181,642,753 (GRCm39) E808V probably damaging Het
Gm1968 T C 16: 29,781,038 (GRCm39) noncoding transcript Het
Gzmb G A 14: 56,497,653 (GRCm39) R196C probably benign Het
Hkdc1 A G 10: 62,231,040 (GRCm39) probably benign Het
Itgal T A 7: 126,913,290 (GRCm39) V629E probably damaging Het
Jak2 T A 19: 29,287,083 (GRCm39) Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 (GRCm39) probably benign Het
Mmd T C 11: 90,140,537 (GRCm39) M1T probably null Het
Myh6 A G 14: 55,200,548 (GRCm39) V191A possibly damaging Het
Naa30 C T 14: 49,410,714 (GRCm39) T214M probably damaging Het
Ncoa3 A T 2: 165,910,381 (GRCm39) T1265S probably benign Het
Or10al2 C A 17: 37,983,778 (GRCm39) T288K probably damaging Het
Or1j10 T C 2: 36,267,054 (GRCm39) S89P probably benign Het
Prex1 A G 2: 166,480,327 (GRCm39) C138R possibly damaging Het
Prom2 A T 2: 127,377,009 (GRCm39) L535H probably benign Het
Pros1 T C 16: 62,734,174 (GRCm39) F327L possibly damaging Het
Ros1 A G 10: 51,977,809 (GRCm39) M1479T probably benign Het
Scn9a G A 2: 66,318,397 (GRCm39) Q1465* probably null Het
Serpinb3b A G 1: 107,083,573 (GRCm39) probably benign Het
Sipa1l3 G A 7: 29,099,253 (GRCm39) Q339* probably null Het
Slc34a2 A C 5: 53,225,469 (GRCm39) probably null Het
Smc3 T A 19: 53,630,283 (GRCm39) probably benign Het
Tmem30a A G 9: 79,682,382 (GRCm39) probably null Het
Trappc11 A T 8: 47,954,903 (GRCm39) D878E probably benign Het
Trrap C T 5: 144,741,628 (GRCm39) T1325M probably damaging Het
Ttc12 A T 9: 49,359,222 (GRCm39) probably benign Het
Vmn1r237 T A 17: 21,534,337 (GRCm39) I20N probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vmn2r74 A G 7: 85,606,414 (GRCm39) Y311H probably benign Het
Vnn3 T A 10: 23,740,263 (GRCm39) F189I possibly damaging Het
Other mutations in Mynn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Mynn APN 3 30,661,854 (GRCm39) nonsense probably null
IGL02084:Mynn APN 3 30,665,764 (GRCm39) missense probably damaging 1.00
IGL02189:Mynn APN 3 30,667,693 (GRCm39) splice site probably benign
IGL02261:Mynn APN 3 30,661,280 (GRCm39) missense possibly damaging 0.67
IGL02541:Mynn APN 3 30,665,752 (GRCm39) missense probably damaging 0.98
IGL02681:Mynn APN 3 30,670,791 (GRCm39) missense probably benign 0.36
IGL03167:Mynn APN 3 30,663,191 (GRCm39) missense probably damaging 1.00
PIT4494001:Mynn UTSW 3 30,661,871 (GRCm39) nonsense probably null
R0049:Mynn UTSW 3 30,661,230 (GRCm39) makesense probably null
R0321:Mynn UTSW 3 30,661,706 (GRCm39) missense probably benign 0.01
R0420:Mynn UTSW 3 30,661,608 (GRCm39) missense probably benign 0.42
R0574:Mynn UTSW 3 30,670,888 (GRCm39) missense probably benign 0.01
R0576:Mynn UTSW 3 30,661,217 (GRCm39) missense probably damaging 1.00
R1460:Mynn UTSW 3 30,657,853 (GRCm39) missense probably damaging 0.99
R1882:Mynn UTSW 3 30,670,962 (GRCm39) makesense probably null
R3115:Mynn UTSW 3 30,661,959 (GRCm39) missense probably damaging 1.00
R3442:Mynn UTSW 3 30,667,712 (GRCm39) missense probably damaging 0.99
R4930:Mynn UTSW 3 30,661,191 (GRCm39) missense probably damaging 1.00
R5153:Mynn UTSW 3 30,665,738 (GRCm39) missense probably benign 0.00
R5351:Mynn UTSW 3 30,661,691 (GRCm39) missense probably benign 0.01
R7446:Mynn UTSW 3 30,661,201 (GRCm39) missense probably benign 0.01
R7468:Mynn UTSW 3 30,657,825 (GRCm39) missense probably damaging 1.00
R7543:Mynn UTSW 3 30,661,188 (GRCm39) nonsense probably null
R8105:Mynn UTSW 3 30,665,628 (GRCm39) missense possibly damaging 0.92
R8423:Mynn UTSW 3 30,657,933 (GRCm39) missense probably benign 0.05
R8465:Mynn UTSW 3 30,670,790 (GRCm39) missense probably damaging 1.00
R8512:Mynn UTSW 3 30,670,798 (GRCm39) missense probably damaging 0.99
R8519:Mynn UTSW 3 30,661,290 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07